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“I come from a background of working with rats and mice [in a] laboratory . . . where you could control everything. I thought, ‘This is impossible, there’s no way you can do this type of research depending on the pet population.’ But I’ve learned that it is possible. I was pleasantly surprised,” Dr. Katz noted.

This research is possible in part because of all the new tools now available, in particular, an innovative Tibetan Terrier DNA bank that has allowed him to compare genes in healthy and diseased animals as well as identify this genetic disorder in several other breeds. While his personal priorities remain human well-being, Martin Katz’s approach to his work has been radically—and humanely—changed.

Unfortunately, given the limitations of current research, Dr. Katz could not give Erika Gaspar a definitive diagnosis for her dog. But though she was sad, she seemed to feel perhaps less burdened, less alone. Which is why this extended family, galvanized by a rare disease, believes it’s onto something. Those affected have reached out beyond their respective boundaries to shepherd change and find a cure.

Postscript
Owners of Tibetan Terriers needn’t panic about Batten disease. While late-onset Batten has been diagnosed in the breed, the incidence is fairly rare. In fact, the Tibetan Terrier Club of America estimates its occurrence at less than 5 percent. The reason this particular breed figured so largely in this story is the creative advocacy shown by Tibetan Terrier breeders and owners. By collaborating with the human Batten disease community, they’re hoping not only to find a cure, but to gain the tools necessary to test all dogs before they’re bred. In this way, they hope to eliminate Batten disease from the breed. Several other dog breeds have been diagnosed with a similarly small percentage of Batten disease. For more information, contact the American Kennel Club Canine Health Foundation (akcchf.org). Editor’s Note: The exact percentage of Tibetan Terriers affected is not yet possible to calculate. According to Dr. Martin Katz, of all the samples collected for the breed’s DNA bank since he has been involved, at least 10 percent are affected. However, this late-onset condition manifests at about age seven. If you consider the samples in the DNA bank representing dogs seven or older, the percentage of those affected increases. At this point, and until a marker is found, it’s difficult to determine to what degree the sampling is a representation of the entire breed or skewed toward those who have contributed because their dogs are affected.

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Researching Batten Disease Down Under
Research into Batten Disease—both canine and human—is going on around the world. About 20 years ago, the disease was discovered in Australia’s much-loved Border Collies; unlike affected Tibetan Terriers, who usually experience late onset of Batten, Australia’s Batten Disease-afflicted Border Collies rarely survive beyond 26 months.

Breeders became concerned that, as fewer lines were used, other genetic mutations would appear. In response, they took several proactive steps, among them, setting up a detailed database of pedigrees dating back to the 1950s and, in 1993, allying themselves with University of New South Wales genetics researcher Dr. Alan Wilton. Dr. Wilton and Scott Melville—a PhD student working on the project—ultimately identified the relevant gene sequence, and a DNA test was developed; it is thought that this test will help breeders eradicate the disorder within a decade.

The research was funded by an impressive coalition of interested parties, including the Australian Research Council, the Border Collie Club of New South Wales and other Australian Border Collie clubs, the Batten Disease Support and Research Association, the Canine Research Foundation, and a bequest from Alice McDonald. More work is needed to extend the benefits of the research to humans. Notes Mr. Melville, “In humans, the story is more complex, with more than 150 mutations in six different genes capable of causing the disease. We hope that in the future, this new information may be able to help in developing treatments for children.”